World Haemochromatosis Week comes around on 3-9 June. Dr Dianne Prince has recently taken on the role of President of Haemochromatosis International and is seeking to increase worldwide awareness of the disease.

Why should we worry about haemochromatosis?

Haemochromatosis is a genetic condition that causes the body to absorb and store too much iron. This places strain on the body’s organs and tissues and if not treated can lead to serious health problems.

Symptoms of the illness vary; they might include fatigue, joint pain and abdominal pain of varying severity. These are similar to symptoms of other common conditions, and are often put down to aging. This makes it hard for doctors to diagnose the disease early, which is why those in the field are concerned by the lack of public awareness.

Iron overload impact bigger than we thought

Research released this year from the University of Exeter in the UK and the University of Connecticut in the USA showed that the affects of haemochromatosis in contributing to other health problems are actually worse than previously thought.

The two large studies found that haemochromatosis compounds the risk of diabetes, liver disease and arthritis. The research also found that older adults with the genetic condition (60-70 years of age), were at increased risk of chronic pain, frailty and sarcopenia (loss of skeletal muscle mass associated with aging).

Analysis of UK Biobank data found that deaths from liver cancer in men with the C282Y mutation in the HFE gene were much higher than anticipated.

Also in men, researchers found that 1.6% of all hip replacements and 5.8% of all liver cancers occurred in those with the two haemochromatosis gene mutations.

“The gene is more prevalent in families of Celtic origin descended from Viking stock which are now dispersed globally. Our international alliance of volunteer organisations enables us to work together to expand knowledge and awareness about the condition,” Dr Prince said.

If you have symptoms or a relative with haemochromatosis, you can talk to your doctor about testing. If repeat blood tests reveal high iron levels, a genetic test can be performed to look for C282Y and/or H63D mutations in the HFE gene. You’ll be diagnosed with haemochromatosis (or at risk of developing iron overload) if you are found to have two faulty copies of the gene. With only one mutation you’ll be told you are a carrier – this means you are unlikely to have any symptoms but may pass the condition on to a child.

Treatment involves regular venesection (giving blood) to remove iron from the body to prevent the build up that leads to symptoms and longer term damage of organs and tissues.

*IMAGE: Dr Dianne Prince

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Dual-trained as haematologists and physicians, the doctors perform the important task of diagnosing cancers and helping guide and administer treatment.

Usually holed up indoors, today they are stepping out of the lab and surgery in a display of solidarity with the patients whose cancers they help uncover and treat.

At 5 o’clock today, the doctors head to the Shambles Brewery in North Hobart to shave their heads for the World’s Greatest Shave.

‘Getting a taste of their own medicine,’ is how Dr Johnston describes it.

The pair originally discussed the fundraising venture during their lunch break, but admittedly, Dr Batt has more to lose than Dr Johnston, in the hair stakes that is.

Dr Johnston is awake to the sacrifice, noting ‘Tracey has long beautiful hair, while mine is fairly short already. Not that my nine-year-old daughter hasn’t raised concerns.’

But Dr Batt’s loss will be the gain of ‘Sustainable Salons’, an organisation that makes wigs from real hair and of course the World’s Greatest Shave that seeks to raise money for research and support of those living with blood cancers.

‘It’s true,’ said Dr Batt, ‘that I have bountiful hair and that will be hard to lose, but given we’ve raised around $9,000 so far makes it all worthwhile.’

Outside the display of solidarity with blood cancer patients and the money raised for blood cancer research, day-to-day haematologists like Dr Batt and Dr Johnston perform vital work.

100% of cancers like leukaemia or lymphoma are diagnosed in pathology labs. The discoveries made in a pathology lab are also central to decisions on how to treat blood cancers.

‘This afternoon we’re about to shave our heads to raise money for the World’s Greatest Shave, which we’re really excited about and feel is really important to draw attention to,’ said Dr Johnston.

‘Blood cancer is the third most common cause of cancer death in Australia,’ added Dr Batt. ‘so, it’s great to be able to support people with blood cancers both inside and outside a medical environment.’

To donate to Dr Johnston and Dr Batt click on the links here and here.

For fast-facts on blood cancers click here

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It was a quiet Saturday afternoon in Geelong when Catherine received a call from St John of God Hospital. Due to surgical complications, two patients were bleeding out on the operating table. Surgeons urgently needed blood transfusions to save their lives.

Not long afterwards, Catherine received a second call from another local hospital – a patient was found unconscious at home in a pool of blood and brought into casualty for an emergency blood transfusion. It was a race against the clock and Catherine needed to act fast. With the help of her team, Catherine cross-matched the patients’ blood samples with available blood supplies and screened them for antibodies. The blood supplies were selected, processed and delivered in less than an hour.

The next day, Catherine was delighted to receive the news that all three patients had survived. She credits her team with the success: “Managing the blood bank is a team effort; it’s not just one person, you rely on couriers and colleagues to cope in emergencies.”

In her 26 years as a medical scientist, Catherine has experienced  blood shortages due to trauma and excessive usage, but with careful monitoring and ordering, it’s possible to keep on top of stock.

“We have a lot of interaction with the hospitals to determine how much blood is needed in the lab. If patients are undergoing complex surgeries, it’s our responsibility to order sufficient blood supplies in case of complications. It’s my duty to regularly monitor the supply and ensure that we never run out.”

Catherine reserves special praise for the Australian Red Cross who provides a vital service to pathology labs. “If there’s ever an emergency, the Australian Red Cross can deliver blood by taxi within an hour. In Australia, we’re very fortunate to have a solid infrastructure which equips us to save countless lives.”

The post Speedy cross-matching saves three lives in one afternoon first appeared on Know Pathology Know Healthcare.

Last week on call started with simultaneously juggling two young male patients with severe anaemia from autoimmune haemolysis.

This is a condition where antibodies produced by the person’s body attack their own red blood cells and cause them to burst. This means that red blood cells that usually last in the bloodstream for 100-120 days have a shorter lifespan, sometimes only a few days. Low red blood cell count (anaemia) is serious and can cause symptoms including tiredness and breathlessness, and in severe cases could be fatal.

Severe anaemia can be treated with a blood transfusion.

‘Both patients were first presentations at Accident and Emergency Departments in separate regional and metropolitan hospitals. The first had such strong antibodies that it was proving difficult even for our established blood bank scientists to analyse the patient’s blood and find an accurate match.

Meanwhile the hospital staff needed to know what to do next, as they were not allowed to transport any patient with severe anaemia to the ward without available blood, and did not want to hear that it may take hours’.

Finding an accurate match for a blood transfusion is essential as providing the wrong blood could cause serious illness and even death.

‘Patient number 2 had an almost identical presentation and was going to be transferred to a public hospital but when it came to the crunch, no bed was available. Meanwhile, to expedite his care, his specimens were sent to his intended destination, so they could process and provide blood on his arrival.

We were then in the difficult scenario of having to provide blood support in our hospital without the benefit of our own investigations, but working in concert with scientists across 2 organisations in the late hours of the evening’.

The next challenge was a major post-partum (after birth) haemorrhage in a Jehovah’s witness at 5:30 am.

Blood transfusions are thought to go against the teachings of the Jehovah’s Witness religion, and most patients of this faith will refuse them.

‘This is a challenging scenario physically, technically and emotionally for all staff involved. Respecting the individual’s choice to potentially die only 24 hours after delivery of a live, healthy infant is so hard for family and staff, those there with her physically in theatre and those with her emotionally in the lab.

Then came notification of a patient, with total knee surgery underway, whose simple group and screen request provided by the anaesthetist was far from simple.  A pan reacting antibody raised alarm bells.’

Patients having surgery will have blood samples sent to the lab for blood typing in case of complications in surgery that mean the patient would require blood. The cross matching process is designed to find blood that mirrors the patient’s own and so will not be rejected by their body. A ‘pan reacting antibody’ is a protein that shows multiple reactions making it difficult to find a match.

‘Quick thinking from the local scientist led to interrogation of the Blood Service records to reveal the patient had been tested through another laboratory earlier in the week and had an antibody to a common antigen: one that would be present and potentially reactive in every red cell unit we selected for the patient.  In short, we had no compatible blood.

Despite the low likelihood of transfusion in this surgical scenario of a total knee replacement, judicious management of the patient, care and carefully planning for potential unexpected outcomes are mandatory in this circumstance.

To top it off I was asked on Friday afternoon to provide technical advice to a medical support team overseas, imminently expecting civilian casualties, but hamstrung by the delayed arrival of blood banking equipment and staff to perform vital cross matching procedures. There’s a question I’ve never had to field before!

So, this week was a real mix of dramatic scenarios and diagnoses, and made me consider what expertise we offer when life and results are not straightforward.  This week my worth was valued in units of sage advice not units of red cells; in fact, I’ve never worked so hard to not give blood in my career to date’.

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Paul is a medical scientist at the Princess Alexandra Hospital in Brisbane. He specialises in haematology and so is often involved in diagnosing blood cancers such as leukaemia. Paul says,

“There are many different types of blood cancer and my job is to identify what type of cancer a patient has which determines the type of treatment they require. Blood cancer is more common that what you think. It doesn’t discriminate between anyone, it affects all of us regardless of our age, race or gender.”

Paul’s initial target was $4,800 which would fund three months of laboratory costs for research into a cure. His final to date will double that.
“I hope this one small act goes a long way towards finding better treatment options and eventually a cure for all blood cancers.”

If you’d like to get behind Paul and help find a cure for blood cancers visit his sponsorship page here.

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A California-based startup, Ambrosia, is enrolling volunteers for the first US clinical trial to investigate the anti-aging effects of injecting adults’ veins with the blood of young people.

Now, we all know that blood transfusions are life-saving.

A regular blood transfusion, which involves pumping the plasma of a healthy person into the veins of a patient via an IV, is an invaluable procedure for surgery patients, women giving birth, cancer patients and trauma victims. But anti-aging? We’re not convinced…

Jesse Karmazin, founder of Ambrosia, claims he has performed the procedure on 30 people and they’re already seeing benefits including renewed focus, improved appearance and more muscle tone. He is aiming to enroll 600 people in the wider trial.

But there is no evidence to suggest this kind of transfusion will have any benefit to the recipient and experts are skeptical that the trial will produce any kind of significant data.

One Stanford University neuroscientist, Tony Wyss-Coray, who lead his own study looking at young plasma in mice in 2014, said;

“There’s just no clinical evidence [that the treatment will be beneficial], and you’re basically abusing people’s trust and the public excitement around this.”

Because that’s the other issue here; the trial procedure, which involves getting 1.5 litres of plasma from a donor between the ages of 16 and 25 over the course of two days, costs each volunteer US$8,000.

Before and after the infusion, participants’ blood will be tested for ‘biomarkers’, a variety of measurable biological substances and processes which are thought to provide a snapshot into health and disease.

Where is the evidence?

Karmazin’s leading motivation was a series of mouse studies that involved connecting the veins of two living mice. Wyss-Coray’s own such study in 2014 suggested that this procedure could rejuvenate a part of the mouse brain where memories are made and stored.

But other researchers on Wyss-Coray’s team were hesitant to suggest the results showed any kind of anti-aging effect.

“We’re not de-ageing animals,” Amy Wagers, a stem-cell researcher at Harvard University told Nature in 2014. Instead of turning old tissues into young ones, Wagers said they were simply helping to repair damage.

Nevertheless, Karmazin remains enthusiastic.

“I’m really happy with the results we’re seeing,” he said.

As for us? We’ll wait and see – the proof is in the plasma after all.

Read the full story on Business Insider. 

The post Blood transfusions save lives but are they anti-aging? first appeared on Know Pathology Know Healthcare.

In July, she was thrilled to see inside a pathology lab and meet the team who saved her life with a fast diagnosis of leukaemia.

When her parents received the diagnosis one Friday night she was rushed to hospital for an emergency blood transfusion.

She wants to be a haematologist when she is older but Bridgette has already ventured into the world of medical technology, inventing a dispenser for sticking plasters, after seeing her mother and the nurses treating her struggling with their packaging.

The ten year old came up with a dispenser similar to that used for sticky tape.

The roll of plasters would have perforated edges every 4cm to allow users to simply tear each one off. A protective plastic layer would keep the strips sterile.

The Herald Sun reported that her idea has seen her named one of four Victorian students among the nation’s best young inventors as part of Origin’s “littleBIGidea” competition.

Another medically inspired idea from one of the young inventors is flavoured medicine icy-poles to encourage kids to take their medication.

The national winner will win a trip to NASA in the USA.

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Haematologists supervise the processing of blood cells for transfusion, stem cells for transplantation, and are involved in cross matching blood for thousands of patients every year across Australia. They diagnose and treat clotting and bleeding abnormalities, conduct red cell antibody screens during pregnancy, and manage genetic and acquired blood diseases.

However, as the blood system is involved in almost every medical condition, haematologists can also contribute to the diagnosis and management of almost any disease or disorder throughout the body.

We asked Dr Ellen Maxwell about her role as a laboratory haematologist:

1. What made you decide to specialise in Haematology?

I was rotated through the Haematology ward in my second resident year.  I had great mentors, enjoyed the complex medicine and bonded with many patients on the ward.  I felt encouraged in my pursuit of knowledge and valued in my contribution to the unit.  In short, they won me over.

Although I loved working with these patients, I also loved the puzzles of numbers (patient results) and had a particular flair for morphology (looking at cells and making diagnoses with the microscope). I always enjoyed and was good at jigsaws!

2. How many hours do you work in a typical week?

The kids are at school by 8 so the day usually starts then. I often head home about 7:30, but evening meetings are not infrequent. I have a very supportive husband who was a stay at home dad when the kids were small, otherwise it would have been impossible.

There are on-call commitments approximately 1-2 weeks per month (24/7). Some weeks are very quiet but when it rains it pours and you may be up co-ordinating a massive blood transfusion in the middle of the night or sending a newly diagnosed acute leukaemic patient to hospital at midnight if they are at risk.

3. What does a typical week involve?

My work includes:

• Diagnostic work; reporting blood films and bone marrows as well as other abnormal test result interpretation
• Performing bone marrow biopsies
• Giving clinical advice by phone based on abnormal test results
• A role in patient therapy including managing transfusion problems, running an anticoagulant clinic and a therapeutic venesection service
• Teaching medical students, scientists, hospital staff and general practitioners
• Supervising advanced Haematology trainee projects and conducting my own research

4. What makes your job enjoyable?

I always tell my medical students that they won’t find a more holistic branch of medicine.  Nowhere else do you get to meet a patient, take a history, perform an examination, procure the diagnostic specimen, review, interpret and report it, predict the clinical outcome, take the information back to counsel the patient, treat and watch their progress. Pathology is central to every diagnosis that a clinician relies on. Each year is peppered with new diagnostic challenges and medical advances.

5. What kind of contact do you have with patients? Is this different to other areas of pathology?

Like me, many Clinical pathologists, microbiologists and chemical pathologists, have completed training through the College of Physicians as well as pathology training. That’s about 7-8 years of further study after your medical degree. During that time there is patient contact as part of ward service or outpatient clinics. This is different to Anatomical pathologists who usually enter pathology training after fewer clinical years and then work only from within the laboratory liaising mostly with medical referrers.

In my current role, I physically interact with patients (and their relatives) when I attend for bone marrow biopsies. You get to know a little about them personally; about their disease and progress as well as their social and emotional issues. You need the skill to make them confident in your expertise to look after them through the procedure, and provide a high quality result. Developing a relationship of trust is pivotal to this, I talk to them throughout the procedure.

I frequently speak to patients about their anticoagulation and I provide education to patients at talks and public forums. Clinical pathologists of all disciplines have conversations with patients, either initiated by patients or as part of organised education meetings.

6. What are the most common conditions that you deal with?

There are malignant conditions both haematological and non-haematological that affect bone marrow and blood e.g. leukaemia, metastatic cancers. There are also issues like investigation of anaemia and other low blood counts, transfusion and patient blood management, antenatal care, management of anticoagulation, investigation of bleeding or excessive clotting disorders, as well as diagnosis of thalassaemia.

7. What about rarer conditions?

Examples of interesting diagnoses include development of antibodies within a patient that are directed against their own clotting proteins, rendering them at high risk of bleeding. These occur at a frequency of about 1 per million of the population and we see this at our laboratory at least a couple of times a year. It needs urgent recognition and intervention.

Unfortunately, some of the fascinating and most spectacular abnormalities you see down the microscope are often the less desirable diagnoses for patients. However, it’s great when you’re expecting the worst and then get a better outcome.

8. What has been your favourite moment working in pathology?

We are always chuffed when there is any recognition of how critical our role is and how hard our team, including collectors, couriers, scientists and results staff, are working to achieve the best outcome for the patient. Pathologists (and their supportive lab staff) are so invisible that compliments are few and far between, but also not really expected. We had a poignant moment recently when a father rang to say how grateful he was that we cared enough to chase the family down, even though very  late, to get their child with a new acute illness (leukaemia) to hospital for prompt diagnosis and intervention. That’s what we’re trained to do.

^{Image credit: Royal College of Pathologists of Australasia}

The post For the love of blood first appeared on Know Pathology Know Healthcare.

“I knew I was anaemic as I had tried to give blood and been told that my haemoglobin was too low,” explains Erin. “Throughout my undergraduate degree I took iron supplements and was still seeing the doctor with anaemia. Eventually in 2006, I saw a GP who started to ask why I was anaemic, there didn’t seem to be a cause. This led to investigations and I was diagnosed with coeliac disease.”

Pathology was particularly important in Erin’s diagnosis; like many people with coeliac disease, Erin didn’t recognise her gastrointestinal issues as being particularly unusual.

“At the time, I didn’t connect my other symptoms – they weren’t prominent and consistent. I would not have noted these symptoms when discussing history as I didn’t think they were abnormal. I took these for granted, thought ‘everyone has this sometimes’, assumed it was something I ate.”

As pathology had picked up Erin’s anaemia, which is common in people with coeliac disease, her GP was able to see that the problem was ongoing, was not responding well to Erin taking supplements and did not appear to have an obvious cause. This meant further investigation was necessary to try and find out why Erin’s body was struggling to maintain good iron levels.

Anaemia is common in people with coeliac disease because while the person continues to eat gluten, the small intestine gets damaged and this can inhibit the absorption of nutrients. Research is also being conducted into whether nutritional deficiencies may contribute to the onset of coeliac disease.

Once Erin was diagnosed with the condition, she encouraged her mum to get tested too, “I was studying immunology at the time, so I understood the genetic connection.”

First degree relatives of people with coeliac disease have a 1 in 10 chance of also testing positive. Pathology testing known as HLA typing can screen relatives to check if they are at risk of coeliac disease, diagnosis is then made via a small intestine biopsy. Erin’s mum Shelley also has osteoporosis which is a condition associated with coeliac disease, so Erin suspected her mum might also be coeliac and advised her to visit her GP.

Erin’s health has improved vastly since diagnosis as she now eats a strict gluten free diet. As well as her mum, Erin’s aunt and cousin also have coeliac disease.

“Pathology has been crucial throughout the diagnostic process for me and for other family members, and as a doctor myself, I feel it is an essential part of medicine.”

Coeliac Awareness Week runs from 13th – 20th March, it is an initiative of Coeliac Australia which aims to raise awareness of coeliac disease amongst the general public and health professionals. For more information about coeliac disease including symptoms, related conditions and testing go to coeliac.org.au

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